Mhc class II deficiency 1

Preferred Label : Mhc class II deficiency 1;

Symbol : MHC2D1;

CISMeF acronym : BLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scid, hla class II-negative; Bare lymphocyte syndrome, type II, complementation group a; Severe combined immunodeficiency, hla class II-negative; Bls, type II; Bare lymphocyte syndrome, type II;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the regulatory factor X-associated protein gene (RFXAP, 601861.0001); Caused by mutation in the regulatory factor X, ankyrin repeat-containing gene (RFXANK, 603200.0001); Caused by mutation in the regulatory factor X, 5 gene (RFX5, 601863.0001); Caused by mutation in the MHC class II transactivator gene (MHC2TA, 600005.0001);

Laboratory abnormalities : Reduced CD4 count and proportionally increased CD8 count; Normal number of T and B lymphocytes; Panhypogammaglobulinemia or agammaglobulinemia; Absence of delayed hypersensitivity skin test;

Prefixed ID : #209920;

Details

Origin ID

209920;

UMLS CUI

C1859534;

Automatic exact mappings (from CISMeF team)
- Bare Lymphocyte Syndrome [NCIt concept]
- Immunodeficiency by defective expression of MHC class II [ORDO Disease]
- MHC class II deficiency [DO Concept]
- Major histocompatibility complex class I deficiency [ICD-10 Sub-category]
- RFXANK wt Allele [NCIt concept]
- Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder) [SNOMED CT concept]
- bare lymphocyte syndrome [MeSH concept]
- bare lymphocyte syndrome, type II, complementation group A [MeSH Supplementary Concept]
- bare lymphocyte syndrome, type II, complementation group A [MeSH concept]
- bare lymphocyte syndrome, type II, complementation group B [MeSH concept]
- bare lymphocyte syndrome, type II, complementation group C [MeSH concept]
- bare lymphocyte syndrome, type II, complementation group D [MeSH concept]
- bare lymphocyte syndrome, type II, complementation group E [MeSH concept]
- regulatory factor X associated ankyrin containing protein [ORDO Gene]
- severe combined immunodeficiency [MeSH Descriptor]
Currated CISMeF NLP mapping
- Bare Lymphocyte Syndrome Type 2 [NCIt concept]
- bare lymphocyte syndrome 2 [MeSH concept]
- bare lymphocyte syndrome 2 [MeSH Supplementary Concept]
- bare lymphocyte syndromes type 2 [Disease (Nov.)]
DO Cross reference
- MHC class II deficiency [DO Concept]
False automatic mappings
- Bolivia, Plurinational State of [NCIt concept]
Genes related to phenotype
- Class II major histocompatibility complex transactivator [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biliary tract abnormality [HPO term]
- Cholangitis [HPO term]
- Chronic lymphocytic meningitis [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Colitis [HPO term]
- Cutaneous anergy [HPO term]
- Failure to thrive [HPO term]
- Infectious encephalitis [HPO term]
- Lack of delayed skin hypersensitivity reaction [HPO term]
- Malabsorption [HPO term]
- Neutropenia [HPO term]
- Panhypogammaglobulinemia [HPO term]
- Protracted diarrhea [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent protozoan infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Recurrent urinary tract infections [HPO term]
- Recurrent viral infections [HPO term]
- Villous atrophy [HPO term]
- Viral hepatitis [HPO term]
ORDO concept(s)
- Immunodeficiency by defective expression of MHC class II [ORDO Disease]
See also inter- (CISMeF)
- Immunodeficiency by defective expression of MHC class II [ORDO Disease]
- bare lymphocyte syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bare Lymphocyte Syndrome Type 2 [NCIt concept]
- Immunodeficiency by defective expression of MHC class II [ORDO Disease]
- bare lymphocyte syndrome 2 [MeSH Supplementary Concept]
- bare lymphocyte syndrome 2 [MeSH concept]
- bare lymphocyte syndrome, type II, complementation group A [MeSH concept]
- bare lymphocyte syndrome, type II, complementation group A [MeSH Supplementary Concept]
- bare lymphocyte syndromes type 2 [Disease (Nov.)]
Validated automatic mappings to NTBT
- Bare Lymphocyte Syndrome [NCIt concept]
- bare lymphocyte syndrome [Disease (Nov.)]

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